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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1328301906
Gene: DIRC3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.217445673_217445674delinsTC , CM000664.2:g.217445673_217445674delinsTC
GRCh38
NC_000002.11:g.218310396_218310397delinsTC , CM000664.1:g.218310396_218310397delinsTC
GRCh37
NC_000002.10:g.218018641_218018642delinsTC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000474063.5:n.500-11558_500-11557delinsGA
ENST00000486365.5:n.1523-11558_1523-11557delinsGA
NR_026597.1:n.1523-11558_1523-11557delinsGA
NR_026597.2:n.1523-11558_1523-11557delinsGA
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